Figure 5.
Complex variants in samples A9 and A12. (A) A model for the evolution of the complex variant in A9. An inversion occurred between int22h-2 and int22h-3, another inversion occurred between int22h-1 and int22h-2 (distal int22h), and a duplication of int22h-2 and int22h-1/2or3 repeats occurred sequentially. (B) The structure of the complex variant in A12. The fragment between int22h-2 and int22h-3 was inverted, and a repeat fragment was inserted into F8. One breakpoint of the insertion fragment is located at hg38 chrX:155,471,846; whereas the other is situated within int22h-2. In addition, a minor duplication of the sequence from hg38 chrX:154,872,422 to int22h-1 occurred, with the insertion site located at the junction of this duplication.